KEGG   DISEASE: Chronic idiopathic intestinal pseudo-obstructionHelp
Entry
H01276                      Disease                                

Name
Chronic idiopathic intestinal pseudo-obstruction;
CIIP
Description
Chronic idiopathic intestinal pseudo-obstruction (CIIP) is a rare, often fatal syndrome, caused by a heterogeneous group of enteric neuromuscular diseases that result in a severe abnormality of gastrointestinal motility. The typical clinical manifestation is characterized by recurrent episodes of abdominal pain, abdominal distension, and inability to defecate. CIIP is one of the most important causes of chronic intestinal failure both in pediatric and adult cases, since affected individuals are often unable to maintain normal body weight and/or normal oral nutrition. CIIP is generally sporadic, but familial forms have also been described. It has been reported that flamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction.
Category
Gastrointestinal disease
Brite
Human diseases [BR:br08402]
 Digestive system diseases
  Gastrointestinal diseases
   H01276  X-linked chronic idiopathic intestinal pseudo-obstruction
BRITE hierarchy
Pathway
MAPK signaling pathway
Focal adhesion
Gene
FLNA [HSA:2316] [KO:K04437]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Antonucci A, Fronzoni L, Cogliandro L, Cogliandro RF, Caputo C, De Giorgio R, Pallotti F, Barbara G, Corinaldesi R, Stanghellini V
  Title
Chronic intestinal pseudo-obstruction.
  Journal
World J Gastroenterol 14:2953-61 (2008)
DOI:10.3748/wjg.14.2953
Reference
PMID:17357080 (gene)
  Authors
Gargiulo A, Auricchio R, Barone MV, Cotugno G, Reardon W, Milla PJ, Ballabio A, Ciccodicola A, Auricchio A
  Title
Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.
  Journal
Am J Hum Genet 80:751-8 (2007)
DOI:10.1086/513321

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